Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Watson, CM, Crinnion, LA, Morgan, JE et al. (10 more authors) (2014) Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. Human Mutation, 35 (4). 434 - 441. ISSN 1059-7794

Abstract

Metadata

Authors/Creators:
  • Watson, CM
  • Crinnion, LA
  • Morgan, JE
  • Harrison, SM
  • Diggle, CP
  • Adlard, J
  • Lindsay, HA
  • Camm, N
  • Charlton, R
  • Sheridan, E
  • Bonthron, DT
  • Taylor, GR
  • Carr, IM
Copyright, Publisher and Additional Information: © 2013 The Authors. Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: Exome sequencing; Mutation detection; Sequence analysis; Software; Axonemal Dyneins; Codon, Nonsense; Dyneins; Genes, Neoplasm; Genetic Predisposition to Disease; Genetic Testing; Genetic Variation; High-Throughput Nucleotide Sequencing; Humans; Kartagener Syndrome; Neoplasms; Polymorphism, Single Nucleotide; Reproducibility of Results; Software; User-Computer Interface
Dates:
  • Published: April 2014
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 15 Oct 2015 14:01
Last Modified: 15 Oct 2015 14:01
Published Version: http://dx.doi.org/10.1002/humu.22490
Status: Published
Publisher: Wiley
Identification Number: https://doi.org/10.1002/humu.22490
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